|
rs1554122458
|
|
Muscle hypotonia
|
CA |
0.700 |
CausalMutation
|
CLINVAR |
Analysis of 31-year-old patient with SYNGAP1 gene defect points to importance of variants in broader splice regions and reveals developmental trajectory of SYNGAP1-associated phenotype: case report.
|
28576131 |
2017 |
|
rs1554122458
|
|
Muscle hypotonia
|
CA |
0.700 |
CausalMutation
|
CLINVAR |
Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy.
|
26989088 |
2016 |
|
rs1554122458
|
|
Muscle hypotonia
|
CA |
0.700 |
CausalMutation
|
CLINVAR |
Decrease of SYNGAP1 in GABAergic cells impairs inhibitory synapse connectivity, synaptic inhibition and cognitive function.
|
27827368 |
2016 |
|
rs1554122458
|
|
Muscle hypotonia
|
CA |
0.700 |
CausalMutation
|
CLINVAR |
De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability.
|
26079862 |
2015 |
|
rs1554122458
|
|
Muscle hypotonia
|
CA |
0.700 |
CausalMutation
|
CLINVAR |
Large-scale discovery of novel genetic causes of developmental disorders.
|
25533962 |
2015 |
|
rs1554122458
|
|
Muscle hypotonia
|
CA |
0.700 |
CausalMutation
|
CLINVAR |
De novo mutations in epileptic encephalopathies.
|
23934111 |
2013 |
|
rs1554122458
|
|
Muscle hypotonia
|
CA |
0.700 |
CausalMutation
|
CLINVAR |
Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency.
|
23161826 |
2013 |
|
rs1554122458
|
|
Muscle hypotonia
|
CA |
0.700 |
CausalMutation
|
CLINVAR |
Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.
|
24267886 |
2013 |
|
rs1554122458
|
|
Muscle hypotonia
|
CA |
0.700 |
CausalMutation
|
CLINVAR |
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
|
23708187 |
2013 |
|
rs1554122458
|
|
Muscle hypotonia
|
CA |
0.700 |
CausalMutation
|
CLINVAR |
Pathogenic SYNGAP1 mutations impair cognitive development by disrupting maturation of dendritic spine synapses.
|
23141534 |
2012 |
|
rs1554122458
|
|
Muscle hypotonia
|
CA |
0.700 |
CausalMutation
|
CLINVAR |
Evolution and functional impact of rare coding variation from deep sequencing of human exomes.
|
22604720 |
2012 |
|
rs1554122458
|
|
Muscle hypotonia
|
CA |
0.700 |
CausalMutation
|
CLINVAR |
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
|
23020937 |
2012 |
|
rs1554122458
|
|
Muscle hypotonia
|
CA |
0.700 |
CausalMutation
|
CLINVAR |
Diagnostic exome sequencing in persons with severe intellectual disability.
|
23033978 |
2012 |
|
rs1554122458
|
|
Muscle hypotonia
|
CA |
0.700 |
CausalMutation
|
CLINVAR |
Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.
|
21376300 |
2011 |
|
rs1554122458
|
|
Muscle hypotonia
|
CA |
0.700 |
CausalMutation
|
CLINVAR |
De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism.
|
21237447 |
2011 |
|
rs1554122458
|
|
Muscle hypotonia
|
CA |
0.700 |
CausalMutation
|
CLINVAR |
Functional impact of global rare copy number variation in autism spectrum disorders.
|
20531469 |
2010 |
|
rs1554122458
|
|
Muscle hypotonia
|
CA |
0.700 |
CausalMutation
|
CLINVAR |
Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation.
|
19196676 |
2009 |
|
rs1554122458
|
|
Muscle hypotonia
|
CA |
0.700 |
CausalMutation
|
CLINVAR |
SynGAP-MUPP1-CaMKII synaptic complexes regulate p38 MAP kinase activity and NMDA receptor-dependent synaptic AMPA receptor potentiation.
|
15312654 |
2004 |